Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488072 | SCV000575436 | uncertain significance | not provided | 2016-09-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001195960 | SCV001366387 | uncertain significance | Macular degeneration, early-onset | 2019-02-28 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. |
Invitae | RCV001857717 | SCV002183226 | likely benign | Congenital contractural arachnodactyly | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354546 | SCV002625231 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-05-24 | criteria provided, single submitter | clinical testing | The p.R1237C variant (also known as c.3709C>T), located in coding exon 28 of the FBN2 gene, results from a C to T substitution at nucleotide position 3709. The arginine at codon 1237 is replaced by cysteine, an amino acid with highly dissimilar properties, and is located in the cbEGF-like #15 domain. In one study, 13 of 14 reported FBN2 mutations were found in the middle region of the gene (exons 24-36), and 7 of these mutations were noted to alter or produce a cysteine residue (Callewaert BL et al. Hum Mutat. 2009;30(3):334-341). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |